Rush University Logo 1 in 4000 males and 1 in 6000 females of all races and ethnic groups are apparently diagnosed with Fragile X. Symptoms probably include characteristic physical / behavioral features and delays in speech as well as language development. Scientists have now crafted a novel drug to treat the underlying disorder, Fragile X.

In the early trial, 30 Fragile X patients were provided with a drug, called AFQ056 to enhance symptoms. Patients reporting the best response with a kind of ‘fingerprint’ in their DNA acting as a marker can possibly receive the newly designed drug. This medication may be a model for the treatment of other disorders such as autism. The drug may halt activity of mGluR5, a receptor protein on brain cells involved in most aspects of normal brain function, namely controlling the strength of brain connections, a key process required for learning and memory.

Fragile X patients are predicted to have a single gene, known as Fragile X Mental Retardation-1 or FMR1. The mutation seemingly restricts FMR1 from making its protein, called FMRP, which acts as a blocker or ‘brake’ for brain cell pathways activated by mGluR5. In the absence of FMRP, mGluR5 pathways are possibly overactive leading to abnormal connections in the brain and the behavioral as well as cognitive impairments linked to Fragile X. No significant effects of treatment in the entire group of 30 patients were registered.

Seven patients having a fully methylated gene apparently revealed a considerable improvement in behavior, hyperactivity and inappropriate speech with the treatment as compared to placebo. Dr. Elizabeth Berry-Kravis, who led the study and director of the Fragile X Clinic and Research Program and the Fragile X-Associated Disorders Program at Rush and colleagues mention that the drug was well-tolerated with no safety problems rose throughout the investigation.

The study is published in the January issue of Science Translational Medicine.